esv3829073
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,972
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 720 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 53 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3829073 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
esv3829073 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv18172483 | deletion | HG00254 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,343 |
essv18172484 | deletion | HG01985 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,789 |
essv18172485 | deletion | HG02256 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,624 |
essv18172486 | deletion | HG02427 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,959 |
essv18172487 | deletion | HG03199 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,836 |
essv18172488 | deletion | HG03433 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,053 |
essv18172489 | deletion | HG04054 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,819 |
essv18172490 | deletion | NA18877 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,288 |
essv18172491 | deletion | NA19019 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,959 |
essv18172492 | deletion | NA19327 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,110 |
essv18172493 | deletion | NA19385 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,057 |
essv18172494 | deletion | NA20502 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,989 |
essv18172495 | deletion | NA20903 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,711 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv18172483 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172484 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172485 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172486 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172487 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172488 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172489 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172490 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172491 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172492 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172493 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172494 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172495 | Remapped | Perfect | NC_000003.12:g.(40 75153_4075653)_(40 89624_4090124)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,075,653 (-500, +0) | 4,089,624 (-0, +500) |
essv18172483 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172484 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172485 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172486 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172487 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172488 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172489 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172490 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172491 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172492 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172493 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172494 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) | ||
essv18172495 | Submitted genomic | NC_000003.11:g.(41 16837_4117337)_(41 31308_4131808)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,117,337 (-500, +0) | 4,131,308 (-0, +500) |